HGVS (amino-acid) | Transcript change |
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ENSP00000380093.2:p.Pro466_Ter467insLeuArgGlyProCysArgHisHisProProProSerProCysProGlnProValCysProValProCysProProGlnAlaTrpTrpTrpGlnTrpArgArgLeuArgArgLeuLysArgLeuThrGlyArgGlyAlaPheCysLeuAlaHisCysProAspAspProProAlaProSerArgLeuGlnGlnGlnSerProArgArgThrGlyTrpThrGluGluLysGluValAspCysCysThrHisThrGluArg |